Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Moldiag Erkrankungen Gene Support Kontakt

IGF-Bindungsprotein 3

Das IGFBP3-Gen kodiert ein Protein welches mit dem insulin-growth-factor interagiert und damit die Halbwärtszeit verlängert. Deshalb wird eine mögliche Beeinflussung der Wachstumsregulation bei Mutationen angenommen.

Gentests:

Klinisch Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Forschung Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Multiplex ligationsabhängige Amplifikation
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Wachstumshormon-Unempfindlichkeit
IGFBP3
Insulinähnlicher Wachtumsfaktor 1 Mangel
IGF1
Insulinähnlicher Wachtumsfaktor 1 Resistenz
IGF1R
Insulinähnlicher Wachtumsfaktor 1-Transportproteinmangel
IGFALS
Laron-Syndrom
GHR
SH2B1
Wachstumshormoninsensitivität mit Immundefizit
STAT5B

Referenzen:

1.

Ehrenborg E et al. (1992) Contiguous localization of the genes encoding human insulin-like growth factor binding proteins 1 (IGBP1) and 3 (IGBP3) on chromosome 7.

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2.

Lofqvist C et al. (2007) IGFBP3 suppresses retinopathy through suppression of oxygen-induced vessel loss and promotion of vascular regrowth.

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3.

Chang KH et al. (2007) IGF binding protein-3 regulates hematopoietic stem cell and endothelial precursor cell function during vascular development.

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4.

Cheng I et al. (2007) Genetic determinants of circulating insulin-like growth factor (IGF)-I, IGF binding protein (BP)-1, and IGFBP-3 levels in a multiethnic population.

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5.

Spoerri PE et al. (2003) Expression of IGFBP-3 by human retinal endothelial cell cultures: IGFBP-3 involvement in growth inhibition and apoptosis.

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6.

Spagnoli A et al. (2002) Identification of STAT-1 as a molecular target of IGFBP-3 in the process of chondrogenesis.

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7.

Buckway CK et al. (2001) Mutation of three critical amino acids of the N-terminal domain of IGF-binding protein-3 essential for high affinity IGF binding.

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8.

Popovici RM et al. (2001) Hypoxia regulates insulin-like growth factor-binding protein 1 in human fetal hepatocytes in primary culture: suggestive molecular mechanisms for in utero fetal growth restriction caused by uteroplacental insufficiency.

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9.

Weinzimer SA et al. (2001) Transferrin is an insulin-like growth factor-binding protein-3 binding protein.

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10.

Deal C et al. (2001) Novel promoter polymorphism in insulin-like growth factor-binding protein-3: correlation with serum levels and interaction with known regulators.

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11.

Fraser HM et al. (2000) Changes in insulin-like growth factor-binding protein-3 messenger ribonucleic acid in endothelial cells of the human corpus luteum: a possible role in luteal development and rescue.

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12.

Ferry RJ et al. (1999) Insulin-like growth factor binding proteins: new proteins, new functions.

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13.

Ballard J et al. (1989) On the nomenclature of the IGF binding proteins.

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14.

Wood WI et al. (1988) Cloning and expression of the growth hormone-dependent insulin-like growth factor-binding protein.

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15.

Geary MP et al. (2003) Sexual dimorphism in the growth hormone and insulin-like growth factor axis at birth.

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16.

NCBI article

NCBI 3486 external link
17.

OMIM.ORG article

Omim 146732 external link
Update: 14. August 2020
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